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Related Experiment Video

Updated: Jul 12, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Published on: August 24, 2013

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

Nathalie M Aceves-Ewing¹, Denise G Lanza¹, Paul C Marcogliese²

¹Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|July 10, 2026

Summary

This summary is machine-generated.

New AXIN2 gene variants cause developmental disorders and cancer predisposition. These pathogenic mutations disrupt protein interactions, leading to severe phenotypes in mouse models and informing future diagnostic strategies.

Keywords:

AXIN2 Wnt/β-catenin signaling ectodermal dysplasia oligodontia-colorectal cancer tankyrase-binding domain

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Whole-mount Imaging of Mouse Embryo Sensory Axon Projections

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Published on: December 9, 2014

Area of Science:

Genetics
Developmental Biology
Molecular Biology

Background:

Heterozygous pathogenic variants in AXIN2 are linked to oligodontia-colorectal cancer syndrome (ODCRCS).
Understanding the functional impact of novel AXIN2 variants is crucial for diagnosing related congenital anomalies.

Purpose of the Study:

To identify and characterize de novo, heterozygous variants in AXIN2.
To investigate the impact of these variants on AXIN2 function and associated phenotypes.
To explore the potential role of AXIN2 variants in developmental abnormalities.

Main Methods:

Utilized structural modeling to predict the effects of AXIN2 variants on protein interactions.
Employed prime editing in mouse embryos to assess the pathogenicity of the p.Glu66Lys variant.
Developed Drosophila models to evaluate the impact of the p.Glu66Lys variant on Wnt signaling.

Main Results:

Identified three de novo heterozygous AXIN2 variants (p.Glu66Lys, p.Glu66Gly, p.Gly67Arg).
Structural modeling indicated disruption of the AXIN2-tankyrase binding domain.
The p.Glu66Lys variant caused perinatal lethality in mice with craniofacial and skeletal defects, suggesting dominant-negative or gain-of-function effects.

Conclusions:

Pathogenic variants in the AXIN2 tankyrase-binding domain expand the phenotypic spectrum of ODCRCS.
Variant effects on AXIN2 function and Wnt signaling may be context-dependent.
The N1 modeling approach offers a valuable tool for assessing pathogenicity of heterozygous variants in congenital anomaly disorders.